Canonical Allele Identifier: CA344201828

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 452905
• ClinVar RCV Id: RCV000522658 ; RCV004003647
• dbSNP Id: rs727504247
• MyVariant Identifiers: chr1:g.201328345C>A (hg19) ; chr1:g.201359217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201359217C>A , CM000663.2:g.201359217C>A	GRCh38
NC_000001.10:g.201328345C>A , CM000663.1:g.201328345C>A	GRCh37
NC_000001.9:g.199594968C>A	NCBI36
NG_007556.1:g.23461G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.875G>T	ENSP00000402238.3:p.Trp292Leu
ENST00000367318.10:c.860G>T	ENSP00000356287.5:p.Trp287Leu
ENST00000367322.6:c.848G>T	ENSP00000356291.2:p.Trp283Leu
ENST00000412633.3:c.851G>T	ENSP00000408731.2:p.Trp284Leu
ENST00000422165.6:c.881G>T	ENSP00000395163.2:p.Trp294Leu
ENST00000438742.6:c.839G>T	ENSP00000414036.2:p.Trp280Leu
ENST00000651504.1:n.1351G>T
ENST00000656932.1:c.890G>T MANE Select	ENSP00000499593.1:p.Trp297Leu
ENST00000658476.1:c.925G>T	ENSP00000499741.1:p.Gly309Ter
ENST00000660295.1:c.860G>T	ENSP00000499418.1:p.Trp287Leu
ENST00000662159.1:c.*249G>T	ENSP00000499796.1:n.*249G>T
ENST00000663843.1:c.*790G>T	ENSP00000499590.1:n.*790G>T
ENST00000666449.1:c.*135G>T	ENSP00000499667.1:n.*135G>T
ENST00000236918.11:c.890G>T	ENSP00000236918.8:p.Trp297Leu
ENST00000360372.8:c.761G>T	ENSP00000353535.5:p.Trp254Leu
ENST00000367315.6:c.869G>T	ENSP00000356284.3:p.Trp290Leu
ENST00000367317.8:c.842G>T	ENSP00000356286.5:p.Trp281Leu
ENST00000367318.9:c.860G>T	ENSP00000356287.5:p.Trp287Leu
ENST00000367320.6:c.761G>T	ENSP00000356289.2:p.Trp254Leu
ENST00000367322.5:c.851G>T	ENSP00000356291.1:p.Trp284Leu
ENST00000421663.6:c.674G>T	ENSP00000404134.3:p.Trp225Leu
ENST00000458432.6:c.674G>T	ENSP00000387874.3:p.Trp225Leu
ENST00000460780.5:n.2009G>T
ENST00000476888.5:n.307G>T
ENST00000491504.5:n.2099G>T
ENST00000509001.5:c.860G>T	ENSP00000422031.1:p.Trp287Leu
NM_000364.3:c.881G>T	NP_000355.2:p.Trp294Leu
NM_001001430.2:c.860G>T	NP_001001430.1:p.Trp287Leu
NM_001001431.2:c.851G>T	NP_001001431.1:p.Trp284Leu
NM_001001432.2:c.842G>T	NP_001001432.1:p.Trp281Leu
NM_001276345.1:c.890G>T	NP_001263274.1:p.Trp297Leu
NM_001276346.1:c.761G>T	NP_001263275.1:p.Trp254Leu
NM_001276347.1:c.860G>T	NP_001263276.1:p.Trp287Leu
XM_006711508.2:c.860G>T	XP_006711571.1:p.Trp287Leu
XM_006711509.2:c.857G>T	XP_006711572.1:p.Trp286Leu
XM_011509938.1:c.890G>T	XP_011508240.1:p.Trp297Leu
XM_011509939.1:c.887G>T	XP_011508241.1:p.Trp296Leu
XM_011509940.1:c.887G>T	XP_011508242.1:p.Trp296Leu
XM_011509941.1:c.884G>T	XP_011508243.1:p.Trp295Leu
XM_011509942.1:c.845G>T	XP_011508244.1:p.Trp282Leu
XM_011509943.1:c.845G>T	XP_011508245.1:p.Trp282Leu
XM_011509944.1:c.842G>T	XP_011508246.1:p.Trp281Leu
XM_011509946.1:c.683G>T	XP_011508248.1:p.Trp228Leu
XM_006711508.3:c.860G>T	XP_006711571.1:p.Trp287Leu
XM_006711509.3:c.857G>T	XP_006711572.1:p.Trp286Leu
XM_011509938.2:c.890G>T	XP_011508240.1:p.Trp297Leu
XM_011509940.2:c.887G>T	XP_011508242.1:p.Trp296Leu
XM_011509941.2:c.884G>T	XP_011508243.1:p.Trp295Leu
XM_011509942.2:c.845G>T	XP_011508244.1:p.Trp282Leu
XM_011509943.2:c.845G>T	XP_011508245.1:p.Trp282Leu
XM_011509944.2:c.842G>T	XP_011508246.1:p.Trp281Leu
XM_017002216.2:c.857G>T	XP_016857705.1:p.Trp286Leu
XM_017002217.1:c.851G>T	XP_016857706.1:p.Trp284Leu
XM_024449450.1:c.890G>T	XP_024305218.1:p.Trp297Leu
XM_024449454.1:c.857G>T	XP_024305222.1:p.Trp286Leu
XM_024449455.1:c.857G>T	XP_024305223.1:p.Trp286Leu
NM_000364.4:c.881G>T	NP_000355.2:p.Trp294Leu
NM_001001430.3:c.860G>T	NP_001001430.1:p.Trp287Leu
NM_001001431.3:c.851G>T	NP_001001431.1:p.Trp284Leu
NM_001001432.3:c.842G>T	NP_001001432.1:p.Trp281Leu
NM_001276345.2:c.890G>T MANE Select	NP_001263274.1:p.Trp297Leu
NM_001276346.2:c.761G>T	NP_001263275.1:p.Trp254Leu
NM_001276347.2:c.860G>T	NP_001263276.1:p.Trp287Leu